ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)

gnomAD frequency: 0.00001  dbSNP: rs1568617456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691489 SCV000819272 pathogenic Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2023-04-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SEC23B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg503*) in the SEC23B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEC23B are known to be pathogenic (PMID: 19561605, 25044164). ClinVar contains an entry for this variant (Variation ID: 570596). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002269303 SCV002552715 likely pathogenic not provided 2022-01-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)

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